Lyso-globotriaosylsphingosine (lyso-Gb3) levels in neonates and adults with the Fabry disease later-onset GLA IVS4+919G>A mutation

Journal of Inherited Metabolic Disease

Volumn 36, Issue 5, 2013, Pages 881-885

  Chien, Yin Hsiu ^a   Bodamer, Olaf A ^b   Chiang, Shu Chuan ^a   Mascher, Hermann ^c   Hung, Christina ^b   Hwu, Wuh Liang ^a  

^a NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

^b UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^c Pharm analyt Laboratories Inc   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

LYSO GLOBOTRIAOSYLSPHINGOSINE; SPHINGOSINE DERIVATIVE; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGE DISTRIBUTION; AGED; ARTICLE; CHILD; CONTROLLED STUDY; DRIED BLOOD SPOT TESTING; ENZYME ACTIVITY; ENZYME REPLACEMENT; FABRY DISEASE; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC COUNSELING; GLA GENE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INFANT; LIMIT OF DETECTION; LIMIT OF QUANTITATION; MAJOR CLINICAL STUDY; MALE; NEWBORN; NEWBORN SCREENING; PHENOTYPE; PILOT STUDY; PRESCHOOL CHILD; SCHOOL CHILD; SEX DIFFERENCE;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; BIOLOGICAL MARKERS; CHILD; CHILD, PRESCHOOL; FABRY DISEASE; FEMALE; GLYCOLIPIDS; HETEROZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; PILOT PROJECTS; SPHINGOLIPIDS; YOUNG ADULT;

EID: 84884355929     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-012-9547-1     Document Type: Article

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